What is Mucoviscidosis?
Mucoviscidosis is made up of three words: mucus, viscous and ‘osis’. The ending ‘osis’ refers to a disease. The disease is commonly known as Cystic Fibrosis (CF).
Mucoviscidosis is the most common, serious, hereditary disease in our country. Every year, some 50 children are born with Mucoviscidosis, i.e. about one each week. Mucoviscidosis is a genetic disorder and research has shown that about 1 in 20 people are carriers of the Mucoviscidosis gene. This means that they show no symptoms of the disease, but can transmit the gene to their children. When both parents are carriers, there is a one in four chance of their child developing Mucoviscidosis. The most reliable diagnostic method is the Sweat Test.
The disease does not manifest itself in one single organ, but appears in different systems. Every human being has little glands in their body which produce mucous. Mucous, among other things, ensures that bodily wastes, such as bacteria and dust particles which are breathed in, can be eliminated. It also ensures that the digestive matter (enzymes) is transported from the pancreas to the small intestine, thereby ensuring a proper digestion.
In people who suffer from Mucoviscidosis, their little glands produce mucous which is too rigid and sticky, so that it cannot sufficiently carry out its transit function. This leads to an accumulation of mucous in different organs, affecting the lungs and the digestive system in particular. Such mucous build-up leads to lung infections (with frequent coughing up of rigid mucous) and to blockages to the drainage channels in the pancreas and the liver (leading to a very fatty, highly fluid and malodorous stool). Over time, this leads to scar formation or fibrosis (hence the international name, Cystic Fibrosis or CF) and the consequent loss of functional performance of these organs. The disease has no effect on the brain or mental skills, or on muscles, blood, kidneys or the immune system, because these functions do not lead to build-ups of mucous.
The progression of Mucoviscidosis is wholly unpredictable and differs in almost every patient. Likewise, the seriousness of the symptoms and the related life expectancy varies per person. Currently, the –it must be said - intensive therapies are still focused on the treatment of symptoms. Thanks to the ever-evolving treatments and the creation of multidisciplinary reference centres, Mucoviscidosis patients can aspire to a life expectancy beyond adulthood.
At the beginning of the 21st Century, our understanding of the disease is thus far advanced, that the hope for a curative treatment capable of halting organs’ functional loss, is set to become realistic.